Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India
Purpose Assortative mating (AM) or preferential mating is known to influence the genetic architecture of the hearing-impaired (HI) population. AM is now seen as a universal phenomenon with individuals seeking partners based on quantitative, qualitative, and behavioral phenotypes. However, the molecu...
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| Veröffentlicht in: | European archives of oto-rhino-laryngology 2020-11, Vol.277 (11), p.3021-3035 |
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| creator | Chandru, Jayasankaran Jeffrey, Justin Margret Pavithra, Amritkumar Vanniya, S. Paridhy Devi, G. Nandhini Mahalingam, Subathra Karthikeyen, Natarajan Padmavathy Srisailapathy, C. R. Srikumari |
| description | Purpose
Assortative mating (AM) or preferential mating is known to influence the genetic architecture of the hearing-impaired (HI) population. AM is now seen as a universal phenomenon with individuals seeking partners based on quantitative, qualitative, and behavioral phenotypes. However, the molecular genetic dynamics of AM among the HI tested in real time are limited to the DFNB1 locus.
Methods
A total of 113 HI partners from 82 South Indian families (52 deaf marrying deaf and 30 deaf marrying normal), previously excluded for DFNB1 (
GJB2/6
) etiology, were screened for
SLC26A4
gene (DFNB4) variants.
Results
A spectrum of seven pathogenic variants viz
.,
p.S90L, p.V239D, p.V359E, p.Gly389Trpfs*79 (novel), p.T410M, p.N457K and p.K715N were identified. The pathogenic allele frequency of
SLC26A4
variants identified in this study was 3.98% (9/226).
Conclusion
We recommend a preliminary screening of mutational hotspots for future investigations to rapidly test for its recurrence among South Indian HI population. This will be the first study to comprehensively account for the incidence of
SLC26A4
gene variants and the real-time dynamics of DFNB4 variants among this type of a HI cohort. |
| doi_str_mv | 10.1007/s00405-020-06026-3 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2404383258</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2404383258</sourcerecordid><originalsourceid>FETCH-LOGICAL-c347t-48cb472be8968361e8c4357a5318c78f82bb99d2b8293b84aef318ea29bd50893</originalsourceid><addsrcrecordid>eNp9kE1v1DAQhi1ERbeFP8AB-VgOoRPbie1jtSptpZU4AGfLSSZbV4m9eBKkHvjvuN3SI6d3pPdDmoexjzV8qQH0JQEoaCoQUEELoq3kG7aplVSV0qJ9yzZgpa6U0vqUnRE9AECjrHzHTqVQtbat2LA_NxhxCT330U-PFIinkX_fbUV7pfi-ePzigHHIIX7mGSe_4MAH9GNEIu7nFPfc8z7dp7w8NT1RufwSfiOfixR79HOYAhIfc5o5pXW5xxz5XRyCf89ORj8RfnjRc_bz6_WP7W21-3Zzt73aVb1UeqmU6bvyUofGtka2NZpeyUb7Rtam12Y0ouusHURnhJWdUR7H4qAXthsaMFaes4vj7iGnXyvS4uZAPU6Tj5hWckKBkkaKxpSoOEb7nIgyju6Qw-zzo6vBPWF3R-yuYHfP2J0spU8v-2s34_Ba-ce5BOQxQMWKe8zuIa25IKf_zf4Fn0yNYQ</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2404383258</pqid></control><display><type>article</type><title>Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India</title><source>MEDLINE</source><source>SpringerLink Journals - AutoHoldings</source><creator>Chandru, Jayasankaran ; Jeffrey, Justin Margret ; Pavithra, Amritkumar ; Vanniya, S. Paridhy ; Devi, G. Nandhini ; Mahalingam, Subathra ; Karthikeyen, Natarajan Padmavathy ; Srisailapathy, C. R. Srikumari</creator><creatorcontrib>Chandru, Jayasankaran ; Jeffrey, Justin Margret ; Pavithra, Amritkumar ; Vanniya, S. Paridhy ; Devi, G. Nandhini ; Mahalingam, Subathra ; Karthikeyen, Natarajan Padmavathy ; Srisailapathy, C. R. Srikumari</creatorcontrib><description>Purpose
Assortative mating (AM) or preferential mating is known to influence the genetic architecture of the hearing-impaired (HI) population. AM is now seen as a universal phenomenon with individuals seeking partners based on quantitative, qualitative, and behavioral phenotypes. However, the molecular genetic dynamics of AM among the HI tested in real time are limited to the DFNB1 locus.
Methods
A total of 113 HI partners from 82 South Indian families (52 deaf marrying deaf and 30 deaf marrying normal), previously excluded for DFNB1 (
GJB2/6
) etiology, were screened for
SLC26A4
gene (DFNB4) variants.
Results
A spectrum of seven pathogenic variants viz
.,
p.S90L, p.V239D, p.V359E, p.Gly389Trpfs*79 (novel), p.T410M, p.N457K and p.K715N were identified. The pathogenic allele frequency of
SLC26A4
variants identified in this study was 3.98% (9/226).
Conclusion
We recommend a preliminary screening of mutational hotspots for future investigations to rapidly test for its recurrence among South Indian HI population. This will be the first study to comprehensively account for the incidence of
SLC26A4
gene variants and the real-time dynamics of DFNB4 variants among this type of a HI cohort.</description><identifier>ISSN: 0937-4477</identifier><identifier>EISSN: 1434-4726</identifier><identifier>DOI: 10.1007/s00405-020-06026-3</identifier><identifier>PMID: 32417962</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Deafness - genetics ; Head and Neck Surgery ; Humans ; India - epidemiology ; Medicine ; Medicine & Public Health ; Membrane Transport Proteins - genetics ; Neurosurgery ; Otology ; Otorhinolaryngology ; Sulfate Transporters - genetics ; Vestibular Aqueduct</subject><ispartof>European archives of oto-rhino-laryngology, 2020-11, Vol.277 (11), p.3021-3035</ispartof><rights>Springer-Verlag GmbH Germany, part of Springer Nature 2020</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c347t-48cb472be8968361e8c4357a5318c78f82bb99d2b8293b84aef318ea29bd50893</citedby><cites>FETCH-LOGICAL-c347t-48cb472be8968361e8c4357a5318c78f82bb99d2b8293b84aef318ea29bd50893</cites><orcidid>0000-0001-7905-1887 ; 0000-0002-2245-3903 ; 0000-0003-3194-2650 ; 0000-0002-1315-5090 ; 0000-0002-5913-6397</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00405-020-06026-3$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00405-020-06026-3$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27923,27924,41487,42556,51318</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32417962$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chandru, Jayasankaran</creatorcontrib><creatorcontrib>Jeffrey, Justin Margret</creatorcontrib><creatorcontrib>Pavithra, Amritkumar</creatorcontrib><creatorcontrib>Vanniya, S. Paridhy</creatorcontrib><creatorcontrib>Devi, G. Nandhini</creatorcontrib><creatorcontrib>Mahalingam, Subathra</creatorcontrib><creatorcontrib>Karthikeyen, Natarajan Padmavathy</creatorcontrib><creatorcontrib>Srisailapathy, C. R. Srikumari</creatorcontrib><title>Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India</title><title>European archives of oto-rhino-laryngology</title><addtitle>Eur Arch Otorhinolaryngol</addtitle><addtitle>Eur Arch Otorhinolaryngol</addtitle><description>Purpose
Assortative mating (AM) or preferential mating is known to influence the genetic architecture of the hearing-impaired (HI) population. AM is now seen as a universal phenomenon with individuals seeking partners based on quantitative, qualitative, and behavioral phenotypes. However, the molecular genetic dynamics of AM among the HI tested in real time are limited to the DFNB1 locus.
Methods
A total of 113 HI partners from 82 South Indian families (52 deaf marrying deaf and 30 deaf marrying normal), previously excluded for DFNB1 (
GJB2/6
) etiology, were screened for
SLC26A4
gene (DFNB4) variants.
Results
A spectrum of seven pathogenic variants viz
.,
p.S90L, p.V239D, p.V359E, p.Gly389Trpfs*79 (novel), p.T410M, p.N457K and p.K715N were identified. The pathogenic allele frequency of
SLC26A4
variants identified in this study was 3.98% (9/226).
Conclusion
We recommend a preliminary screening of mutational hotspots for future investigations to rapidly test for its recurrence among South Indian HI population. This will be the first study to comprehensively account for the incidence of
SLC26A4
gene variants and the real-time dynamics of DFNB4 variants among this type of a HI cohort.</description><subject>Deafness - genetics</subject><subject>Head and Neck Surgery</subject><subject>Humans</subject><subject>India - epidemiology</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Membrane Transport Proteins - genetics</subject><subject>Neurosurgery</subject><subject>Otology</subject><subject>Otorhinolaryngology</subject><subject>Sulfate Transporters - genetics</subject><subject>Vestibular Aqueduct</subject><issn>0937-4477</issn><issn>1434-4726</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1v1DAQhi1ERbeFP8AB-VgOoRPbie1jtSptpZU4AGfLSSZbV4m9eBKkHvjvuN3SI6d3pPdDmoexjzV8qQH0JQEoaCoQUEELoq3kG7aplVSV0qJ9yzZgpa6U0vqUnRE9AECjrHzHTqVQtbat2LA_NxhxCT330U-PFIinkX_fbUV7pfi-ePzigHHIIX7mGSe_4MAH9GNEIu7nFPfc8z7dp7w8NT1RufwSfiOfixR79HOYAhIfc5o5pXW5xxz5XRyCf89ORj8RfnjRc_bz6_WP7W21-3Zzt73aVb1UeqmU6bvyUofGtka2NZpeyUb7Rtam12Y0ouusHURnhJWdUR7H4qAXthsaMFaes4vj7iGnXyvS4uZAPU6Tj5hWckKBkkaKxpSoOEb7nIgyju6Qw-zzo6vBPWF3R-yuYHfP2J0spU8v-2s34_Ba-ce5BOQxQMWKe8zuIa25IKf_zf4Fn0yNYQ</recordid><startdate>20201101</startdate><enddate>20201101</enddate><creator>Chandru, Jayasankaran</creator><creator>Jeffrey, Justin Margret</creator><creator>Pavithra, Amritkumar</creator><creator>Vanniya, S. Paridhy</creator><creator>Devi, G. Nandhini</creator><creator>Mahalingam, Subathra</creator><creator>Karthikeyen, Natarajan Padmavathy</creator><creator>Srisailapathy, C. R. Srikumari</creator><general>Springer Berlin Heidelberg</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-7905-1887</orcidid><orcidid>https://orcid.org/0000-0002-2245-3903</orcidid><orcidid>https://orcid.org/0000-0003-3194-2650</orcidid><orcidid>https://orcid.org/0000-0002-1315-5090</orcidid><orcidid>https://orcid.org/0000-0002-5913-6397</orcidid></search><sort><creationdate>20201101</creationdate><title>Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India</title><author>Chandru, Jayasankaran ; Jeffrey, Justin Margret ; Pavithra, Amritkumar ; Vanniya, S. Paridhy ; Devi, G. Nandhini ; Mahalingam, Subathra ; Karthikeyen, Natarajan Padmavathy ; Srisailapathy, C. R. Srikumari</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c347t-48cb472be8968361e8c4357a5318c78f82bb99d2b8293b84aef318ea29bd50893</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Deafness - genetics</topic><topic>Head and Neck Surgery</topic><topic>Humans</topic><topic>India - epidemiology</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Membrane Transport Proteins - genetics</topic><topic>Neurosurgery</topic><topic>Otology</topic><topic>Otorhinolaryngology</topic><topic>Sulfate Transporters - genetics</topic><topic>Vestibular Aqueduct</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chandru, Jayasankaran</creatorcontrib><creatorcontrib>Jeffrey, Justin Margret</creatorcontrib><creatorcontrib>Pavithra, Amritkumar</creatorcontrib><creatorcontrib>Vanniya, S. Paridhy</creatorcontrib><creatorcontrib>Devi, G. Nandhini</creatorcontrib><creatorcontrib>Mahalingam, Subathra</creatorcontrib><creatorcontrib>Karthikeyen, Natarajan Padmavathy</creatorcontrib><creatorcontrib>Srisailapathy, C. R. Srikumari</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>European archives of oto-rhino-laryngology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chandru, Jayasankaran</au><au>Jeffrey, Justin Margret</au><au>Pavithra, Amritkumar</au><au>Vanniya, S. Paridhy</au><au>Devi, G. Nandhini</au><au>Mahalingam, Subathra</au><au>Karthikeyen, Natarajan Padmavathy</au><au>Srisailapathy, C. R. Srikumari</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India</atitle><jtitle>European archives of oto-rhino-laryngology</jtitle><stitle>Eur Arch Otorhinolaryngol</stitle><addtitle>Eur Arch Otorhinolaryngol</addtitle><date>2020-11-01</date><risdate>2020</risdate><volume>277</volume><issue>11</issue><spage>3021</spage><epage>3035</epage><pages>3021-3035</pages><issn>0937-4477</issn><eissn>1434-4726</eissn><abstract>Purpose
Assortative mating (AM) or preferential mating is known to influence the genetic architecture of the hearing-impaired (HI) population. AM is now seen as a universal phenomenon with individuals seeking partners based on quantitative, qualitative, and behavioral phenotypes. However, the molecular genetic dynamics of AM among the HI tested in real time are limited to the DFNB1 locus.
Methods
A total of 113 HI partners from 82 South Indian families (52 deaf marrying deaf and 30 deaf marrying normal), previously excluded for DFNB1 (
GJB2/6
) etiology, were screened for
SLC26A4
gene (DFNB4) variants.
Results
A spectrum of seven pathogenic variants viz
.,
p.S90L, p.V239D, p.V359E, p.Gly389Trpfs*79 (novel), p.T410M, p.N457K and p.K715N were identified. The pathogenic allele frequency of
SLC26A4
variants identified in this study was 3.98% (9/226).
Conclusion
We recommend a preliminary screening of mutational hotspots for future investigations to rapidly test for its recurrence among South Indian HI population. This will be the first study to comprehensively account for the incidence of
SLC26A4
gene variants and the real-time dynamics of DFNB4 variants among this type of a HI cohort.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>32417962</pmid><doi>10.1007/s00405-020-06026-3</doi><tpages>15</tpages><orcidid>https://orcid.org/0000-0001-7905-1887</orcidid><orcidid>https://orcid.org/0000-0002-2245-3903</orcidid><orcidid>https://orcid.org/0000-0003-3194-2650</orcidid><orcidid>https://orcid.org/0000-0002-1315-5090</orcidid><orcidid>https://orcid.org/0000-0002-5913-6397</orcidid></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0937-4477 |
| ispartof | European archives of oto-rhino-laryngology, 2020-11, Vol.277 (11), p.3021-3035 |
| issn | 0937-4477 1434-4726 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2404383258 |
| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Deafness - genetics Head and Neck Surgery Humans India - epidemiology Medicine Medicine & Public Health Membrane Transport Proteins - genetics Neurosurgery Otology Otorhinolaryngology Sulfate Transporters - genetics Vestibular Aqueduct |
| title | Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India |
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